Canonical Allele Identifier: CA2693353402

Gene: ARX

Linked Data

• gnomAD v4: X-25007472-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25007472_25007473insT , CM000685.2:g.25007472_25007473insT	GRCh38
NC_000023.10:g.25025589_25025590insT , CM000685.1:g.25025589_25025590insT	GRCh37
NC_000023.9:g.24935510_24935511insT	NCBI36
NG_008281.1:g.13476_13477insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1120-34_1120-33insA MANE Select	ENSP00000368332.4:n.1120-34_1120-33insA
ENST00000379044.4:c.1120-34_1120-33insA	ENSP00000368332.4:n.1120-34_1120-33insA
NM_139058.2:c.1120-34_1120-33insA	NP_620689.1:n.1120-34_1120-33insA
NM_139058.3:c.1120-34_1120-33insA MANE Select	NP_620689.1:n.1120-34_1120-33insA